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Results: 21 to 40 of 66

Tests names and labsConditionsGenes, analytes, and microbesMethods

Early Infantile Epileptic Encephalopathy Panel

PreventionGenetics, part of Exact Sciences
United States
144124
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

ADSL Sequence and Deletion/Duplication Analysis

Baylor Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ADSL Sequence Analysis

Baylor Genetics
United States
11
  • C Sequence analysis of the entire coding region

ADSL Prenatal Sequence Analysis

Baylor Genetics
United States
11
  • E Sequence analysis of select exons

ADSL Familial Mutation/Variant Analysis

Baylor Genetics
United States
11
  • E Sequence analysis of select exons

ADSL Deletion/Duplication Analysis

Baylor Genetics
United States
11
  • D Deletion/duplication analysis

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

Biochemistry 7-Plex Autism Panel

Baylor Genetics
United States
87
  • A Analyte

Adenylosuccinase Deficiency via the ADSL Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Purine Panel - Urine

Baylor Genetics
United States
78
  • A Analyte

Rett/Angelman Syndrome Panel

Genetic Services Laboratory University of Chicago
United States
2128
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

NGS Neurodegenerative disorders Multi-Gene Panel (73 genes)

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC
Netherlands
4160
  • C Sequence analysis of the entire coding region

Comprehensive Epilepsy

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
414800
  • C Sequence analysis of the entire coding region

Comprehensive Epilepsy Panel, Sequencing and Deletion/Duplication

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
234240
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Panel of lysosomal disorders and mucopolysaccharidosis. NGS panel of 102 genes.

Genologica Medica
Spain
175102
  • C Sequence analysis of the entire coding region

Metabolic epilepsy panel. 41-gene NGS panel.

Genologica Medica
Spain
5341
  • C Sequence analysis of the entire coding region

Epileptic encephalopathy panel. 128-gene NGS panel.

Genologica Medica
Spain
197128
  • C Sequence analysis of the entire coding region

Complete epilepsy panel. NGS panel of 283 genes.

Genologica Medica
Spain
409283
  • C Sequence analysis of the entire coding region

Adenylosuccinase deficiency: Full gene sequencing

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
11
  • C Sequence analysis of the entire coding region

Adenilosuccinate Deficiency

Genetiks Genetic Diagnosis Center Genetic Diseases Evaluation Center
Turkey
11
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 66

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.